ClinVar for Gene (Select 548596) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267489	NM_001321926.2(CKMT1A):c.796G>T (p.Asp266Tyr)	CKMT1A (D266Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145259	NM_001321926.2(CKMT1A):c.1136A>G (p.Glu379Gly)	CKMT1A (E410G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145257	NM_001321926.2(CKMT1A):c.1014T>A (p.Asp338Glu)	CKMT1A (D179E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3024593	GRCh37/hg19 15q15.3(chr15:43988438-44216507)x3	CKMT1A, ELL3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2645280	NM_001321926.2(CKMT1A):c.1209C>G (p.Gly403=)	CKMT1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645279	NM_001321926.2(CKMT1A):c.1056G>A (p.Lys352=)	CKMT1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2526054	NM_001321926.2(CKMT1A):c.1121G>A (p.Arg374Gln)	CKMT1A (R405Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397435	NM_001321926.2(CKMT1A):c.1058G>T (p.Arg353Leu)	CKMT1A (R384L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370820	NM_001321926.2(CKMT1A):c.1205G>A (p.Arg402Lys)	CKMT1A (R402K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360975	NM_001321926.2(CKMT1A):c.1019G>A (p.Arg340His)	CKMT1A (R340H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1341068	GRCh37/hg19 15q15.2-15.3(chr15:43215243-44632384)x1	ADAL, CATSPER2 +24 more	Copy number loss	not provided	GUncertain significance
Select item 1175707	NC_000015.9:g.(43851199_43890391)_(?_44038820)del	CATSPER2, CKMT1A +4 more	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 1174526	NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del	CKMT1A, CKMT1B +4 more	Deletion	Deafness-infertility syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 996368	Single allele	CATSPER2, CKMT1A +2 more	Deletion	Hearing impairment	GBenign
Select item 815709	GRCh37/hg19 15q15.2-15.3(chr15:43420601-44198616)x3	TGM5, PDIA3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 689073	GRCh37/hg19 15q15.3(chr15:43907706-44000110)x1	CATSPER2, CKMT1A +1 more	Copy number loss	not provided	GUncertain significance
Select item 687797	GRCh37/hg19 15q15.3(chr15:43907508-44000110)x1	CATSPER2, CKMT1A +1 more	Copy number loss	not provided	GUncertain significance
Select item 687507	GRCh37/hg19 15q15.3(chr15:43907508-44000110)x1	CATSPER2, CKMT1A +1 more	Copy number loss	not provided	GUncertain significance
Select item 686816	GRCh37/hg19 15q15.3(chr15:43896294-44014138)x1	CATSPER2, CKMT1A +1 more	Copy number loss	not provided	GUncertain significance
Select item 686695	GRCh37/hg19 15q15.3(chr15:43907508-44000110)x1	CATSPER2, CKMT1A +1 more	Copy number loss	not provided	GUncertain significance
Select item 617597	GRCh37/hg19 15q15.3(chr15:43888927-43933733)x1	CATSPER2, CKMT1A +3 more	Copy number loss	Global developmental delay	GUncertain significance
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 562140	NC_000015.9:g.(43886857_43888004)_(43984930_43992627)del	CATSPER2, CKMT1A +4 more	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443647	GRCh37/hg19 15q15.3(chr15:43868571-44014518)x0	CATSPER2, CKMT1A +3 more	Copy number loss	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 155042	GRCh38/hg38 15q15.3-21.1(chr15:43696563-44541320)x1	CKMT1A, CTDSPL2 +42 more	Copy number loss	See cases	GUncertain significance
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 36